Aliases for PHF6 Gene
External Ids for PHF6 Gene
Previous HGNC Symbols for PHF6 Gene
Previous GeneCards Identifiers for PHF6 Gene
This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by cognitive disability, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010]
GeneCards Summary for PHF6 Gene
PHF6 (PHD Finger Protein 6) is a Protein Coding gene. Diseases associated with PHF6 include Borjeson-Forssman-Lehmann Syndrome and Disease Of Mental Health. Among its related pathways are Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include histone binding. An important paralog of this gene is PHF11.
UniProtKB/Swiss-Prot Summary for PHF6 Gene
Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription.